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Proband Tables
Summaries focusing on proband-level evidence; browse by gene.
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Search gene/disease/HGNC/MONDO or name
Strength column
Any
Allelic Consistency
Phenotypic Consistency
Penetrance
Ethnic Diversity
Inheritance Consistency
Mechanism of disease
Strength
Any
Strong
Moderate
Weak
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Gene
Allelic Consistency
Phenotypic Consistency
Penetrance
Ethnic Diversity
Inheritance Consistency
Mechanism of disease
Actions
RORB
(HGNC:10259)
Moderate
Strong
Moderate
Weak
Strong
Strong
ROM1
(HGNC:10254)
Weak
Moderate
Weak
Moderate
Weak
Weak
ROBO2
(HGNC:10250)
Weak
Weak
Weak
Weak
Moderate
Weak
BCL9
(HGNC:1008)
Moderate
Weak
Weak
Weak
Weak
Weak
BCL7B
(HGNC:1005)
Strong
Moderate
Weak
Weak
Strong
Moderate
RNF13
(HGNC:10057)
Strong
Strong
Moderate
Weak
Strong
Strong
GRK1
(HGNC:10013)
Strong
Strong
Moderate
Strong
Strong
Strong
RHEB
(HGNC:10011)
Weak
Moderate
Weak
Weak
Moderate
Moderate
RGS7
(HGNC:10003)
Weak
Weak
Weak
Weak
Weak
Weak
OPN1LW
(HGNC:9936)
Strong
Strong
Moderate
Moderate
Strong
Strong
RDH5
(HGNC:9940)
Strong
Strong
Moderate
Strong
Strong
Strong
RFXANK
(HGNC:9987)
Strong
Strong
Moderate
Strong
Strong
Strong
RBM10
(HGNC:9896)
Strong
Strong
Moderate
Weak
Strong
Strong
RFX5
(HGNC:9986)
Strong
Strong
Moderate
Moderate
Strong
Strong
RBP4
(HGNC:9922)
Strong
Moderate
Moderate
Moderate
Moderate
Strong
RELA
(HGNC:9955)
Moderate
Moderate
Moderate
Weak
Strong
Strong
RBL2
(HGNC:9894)
Moderate
Strong
Moderate
Weak
Strong
Strong
RBM8A
(HGNC:9905)
Strong
Strong
Moderate
Weak
Strong
Strong
RBBP8
(HGNC:9891)
Moderate
Moderate
Moderate
Weak
Moderate
Moderate
RANBP2
(HGNC:9848)
Strong
Strong
Moderate
Strong
Moderate
Moderate
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